Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SREBF2 (sterol regulatory element binding transcription factor 2)

Identity

Alias_symbol (synonym)SREBP2
bHLHd2
Other aliasSREBP-2
HGNC (Hugo) SREBF2
LocusID (NCBI) 6721
Atlas_Id 42387
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 41833079 and ends at 41907308 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SREBF2 (22q13.2) / ACO2 (22q13.2)SREBF2 (22q13.2) / FMNL2 (2q23.3)SREBF2 (22q13.2) / MEI1 (22q13.2)
SREBF2 (22q13.2) / PLPP4 (10q26.12)SREBF2 22q13.2 / ACO2 22q13.2SREBF2 22q13.2 / FMNL2 2q23.3
SREBF2 22q13.2 / PPAPDC1A 10q26.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SREBF2   11290
Cards
Entrez_Gene (NCBI)SREBF2  6721  sterol regulatory element binding transcription factor 2
AliasesSREBP-2; SREBP2; bHLHd2
GeneCards (Weizmann)SREBF2
Ensembl hg19 (Hinxton)ENSG00000198911 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198911 [Gene_View]  chr22:41833079-41907308 [Contig_View]  SREBF2 [Vega]
ICGC DataPortalENSG00000198911
TCGA cBioPortalSREBF2
AceView (NCBI)SREBF2
Genatlas (Paris)SREBF2
WikiGenes6721
SOURCE (Princeton)SREBF2
Genetics Home Reference (NIH)SREBF2
Genomic and cartography
GoldenPath hg38 (UCSC)SREBF2  -     chr22:41833079-41907308 +  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SREBF2  -     22q13.2   [Description]    (hg19-Feb_2009)
EnsemblSREBF2 - 22q13.2 [CytoView hg19]  SREBF2 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBISREBF2 [Mapview hg19]  SREBF2 [Mapview hg38]
OMIM600481   
Gene and transcription
Genbank (Entrez)AA035591 AK299914 AL834221 BC051385 BC051799
RefSeq transcript (Entrez)NM_004599
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SREBF2
Cluster EST : UnigeneHs.443258 [ NCBI ]
CGAP (NCI)Hs.443258
Alternative Splicing GalleryENSG00000198911
Gene ExpressionSREBF2 [ NCBI-GEO ]   SREBF2 [ EBI - ARRAY_EXPRESS ]   SREBF2 [ SEEK ]   SREBF2 [ MEM ]
Gene Expression Viewer (FireBrowse)SREBF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6721
GTEX Portal (Tissue expression)SREBF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12772   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12772  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12772
Splice isoforms : SwissVarQ12772
PhosPhoSitePlusQ12772
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)SREBF2
DMDM Disease mutations6721
Blocks (Seattle)SREBF2
PDB (SRS)1UKL   
PDB (PDBSum)1UKL   
PDB (IMB)1UKL   
PDB (RSDB)1UKL   
Structural Biology KnowledgeBase1UKL   
SCOP (Structural Classification of Proteins)1UKL   
CATH (Classification of proteins structures)1UKL   
SuperfamilyQ12772
Human Protein AtlasENSG00000198911
Peptide AtlasQ12772
HPRD02726
IPIIPI00328793   IPI00889623   IPI01014321   IPI00794281   IPI01018922   
Protein Interaction databases
DIP (DOE-UCLA)Q12772
IntAct (EBI)Q12772
FunCoupENSG00000198911
BioGRIDSREBF2
STRING (EMBL)SREBF2
ZODIACSREBF2
Ontologies - Pathways
QuickGOQ12772
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  Golgi membrane  C-8 sterol isomerase activity  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  transcription, DNA-templated  lipid metabolic process  protein C-terminus binding  cholesterol metabolic process  cellular response to starvation  positive regulation of cholesterol storage  ER to Golgi transport vesicle membrane  SREBP-SCAP-Insig complex  intracellular membrane-bounded organelle  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  response to low-density lipoprotein particle  E-box binding  cellular response to laminar fluid shear stress  regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter  negative regulation of cholesterol efflux  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  regulation of cholesterol homeostasis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  Golgi membrane  C-8 sterol isomerase activity  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  transcription, DNA-templated  lipid metabolic process  protein C-terminus binding  cholesterol metabolic process  cellular response to starvation  positive regulation of cholesterol storage  ER to Golgi transport vesicle membrane  SREBP-SCAP-Insig complex  intracellular membrane-bounded organelle  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  response to low-density lipoprotein particle  E-box binding  cellular response to laminar fluid shear stress  regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter  negative regulation of cholesterol efflux  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  regulation of cholesterol homeostasis  
Pathways : BIOCARTASREBP control of lipid synthesis [Genes]   
NDEx NetworkSREBF2
Atlas of Cancer Signalling NetworkSREBF2
Wikipedia pathwaysSREBF2
Orthology - Evolution
OrthoDB6721
GeneTree (enSembl)ENSG00000198911
Phylogenetic Trees/Animal Genes : TreeFamSREBF2
HOVERGENQ12772
HOGENOMQ12772
Homologs : HomoloGeneSREBF2
Homology/Alignments : Family Browser (UCSC)SREBF2
Gene fusions - Rearrangements
Fusion : MitelmanSREBF2/ACO2 [22q13.2/22q13.2]  
Fusion : MitelmanSREBF2/FMNL2 [22q13.2/2q23.3]  [t(2;22)(q23;q13)]  
Fusion : MitelmanSREBF2/PPAPDC1A [22q13.2/10q26.12]  [t(10;22)(q26;q13)]  
Fusion: TCGASREBF2 22q13.2 ACO2 22q13.2 BRCA
Fusion: TCGASREBF2 22q13.2 FMNL2 2q23.3 BRCA
Fusion: TCGASREBF2 22q13.2 PPAPDC1A 10q26.12 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSREBF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SREBF2
dbVarSREBF2
ClinVarSREBF2
1000_GenomesSREBF2 
Exome Variant ServerSREBF2
ExAC (Exome Aggregation Consortium)SREBF2 (select the gene name)
Genetic variants : HAPMAP6721
Genomic Variants (DGV)SREBF2 [DGVbeta]
DECIPHERSREBF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSREBF2 
Mutations
ICGC Data PortalSREBF2 
TCGA Data PortalSREBF2 
Broad Tumor PortalSREBF2
OASIS PortalSREBF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSREBF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSREBF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SREBF2
DgiDB (Drug Gene Interaction Database)SREBF2
DoCM (Curated mutations)SREBF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SREBF2 (select a term)
intoGenSREBF2
Cancer3DSREBF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600481   
Orphanet
MedgenSREBF2
Genetic Testing Registry SREBF2
NextProtQ12772 [Medical]
TSGene6721
GENETestsSREBF2
Target ValidationSREBF2
Huge Navigator SREBF2 [HugePedia]
snp3D : Map Gene to Disease6721
BioCentury BCIQSREBF2
ClinGenSREBF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6721
Chemical/Pharm GKB GenePA336
Clinical trialSREBF2
Miscellaneous
canSAR (ICR)SREBF2 (select the gene name)
Probes
Litterature
PubMed169 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSREBF2
EVEXSREBF2
GoPubMedSREBF2
iHOPSREBF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 14:08:28 CEST 2017

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